BLS1
MCID: BRL011
MIFTS: 41

Bare Lymphocyte Syndrome, Type I (BLS1)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 58 13 74
Hla Class I Deficiency 58 12 26 76 56
Bare Lymphocyte Syndrome Type I 12 26
Mhc Class I Deficiency 12 15
Bls, Type I 58 12
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency 58
Major Histocompatibility Complex Class 1 Deficiency 54
Bare Lymphocyte Syndrome 1 76
Mhc Class 1 Deficiency 54
Bls Type I 76
Bls I 76
Blsi 12
Bls1 76
Bl-1 17

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy


HPO:

33
bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060009
OMIM 58 604571
MeSH 45 D007153
ICD10 34 D81.6
MedGen 43 C1858266
UMLS 74 C1858266

Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : 26 Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to immunodeficiency by defective expression of hla class 1 and bare lymphocyte syndrome, type ii. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Human cytomegalovirus infection. Affiliated tissues include lung, skin and b cells, and related phenotypes are chronic otitis media and emphysema

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has material basis in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.

UniProtKB/Swiss-Prot : 76 Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

Description from OMIM: 604571

Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency by defective expression of hla class 1 29.8 TAP1 TAP2 TAPBP
2 bare lymphocyte syndrome, type ii 29.6 RFX5 RFXANK RFXAP TAP2
3 orbital melanoma 10.2 TAP1 TAPBP
4 burkitt lymphoma 10.1
5 lymphoma 10.1
6 idiopathic bronchiectasis 10.1 TAP1 TAP2
7 melanoma 10.1
8 bronchiectasis 10.0
9 panbronchiolitis, diffuse 10.0
10 combined t cell and b cell immunodeficiency 10.0 RFX5 RFXAP
11 lung cancer susceptibility 3 9.9
12 adenocarcinoma 9.9
13 fibrosarcoma 9.9
14 spondylitis 9.9 TAP1 TAP2
15 severe combined immunodeficiency 9.7 RFX5 RFXANK RFXAP
16 mature b-cell neoplasm 9.6 CD40 RFXANK

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:



Diseases related to Bare Lymphocyte Syndrome, Type I

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 33 HP:0000389
2 emphysema 33 HP:0002097
3 skin ulcer 33 HP:0200042
4 ectopia lentis 33 HP:0001083
5 nasal polyposis 33 HP:0100582
6 bronchiectasis 33 HP:0002110
7 chronic sinusitis 33 HP:0011109
8 bronchiolitis 33 HP:0011950
9 recurrent bronchitis 33 HP:0002837

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchiolitis
bronchitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
more
Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

42
Lung, Skin, B Cells, T Cells

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

# Title Authors Year
1
HLA class I deficiency as an additional cause of bronchiectasis. ( 26172480 )
2015
2
HLA class I deficiency as an additional cause of bronchiectasis - Reply. ( 26172572 )
2015
3
HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ( 18668571 )
2008
4
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879436 )
2007
5
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879452 )
2007
6
Clinical and immunological aspects of HLA class I deficiency. ( 16087697 )
2005
7
Granulomatous disease associated with HLA class I deficiency. ( 11298563 )
2001
8
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
9
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999
10
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ( 7517574 )
1994

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
2 TAP2 NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr) single nucleotide variant Benign rs241447 GRCh37 Chromosome 6, 32796751: 32796751
3 TAP2 NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr) single nucleotide variant Benign rs241447 GRCh38 Chromosome 6, 32828974: 32828974
4 TAP2 NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter) single nucleotide variant Benign rs241448 GRCh37 Chromosome 6, 32796685: 32796685
5 TAP2 NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter) single nucleotide variant Benign rs241448 GRCh38 Chromosome 6, 32828908: 32828908
6 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
7 TAP2 TAP2, 1-BP DEL deletion Pathogenic
8 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 GRCh37 Chromosome 6, 32814909: 32814909
9 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 GRCh38 Chromosome 6, 32847132: 32847132
10 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
11 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh37 Chromosome 6, 32805967: 32805967
12 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh38 Chromosome 6, 32838190: 32838190
13 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh38 Chromosome 6, 32832458: 32832458
14 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh37 Chromosome 6, 32798457: 32798458
15 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh38 Chromosome 6, 32830680: 32830681
16 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh37 Chromosome 6, 32800235: 32800235
17 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh38 Chromosome 6, 32835181: 32835181
18 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh37 Chromosome 6, 32802958: 32802958
19 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh38 Chromosome 6, 32835724: 32835724
20 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh37 Chromosome 6, 32803501: 32803501
21 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh37 Chromosome 6, 32805789: 32805789
22 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh38 Chromosome 6, 32838012: 32838012
23 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh37 Chromosome 6, 32814902: 32814902
24 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh38 Chromosome 6, 32847125: 32847125
25 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh38 Chromosome 6, 32852214: 32852214
26 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh37 Chromosome 6, 32819991: 32819991
27 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh38 Chromosome 6, 32853588: 32853588
28 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh37 Chromosome 6, 32821365: 32821365
29 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh38 Chromosome 6, 33304535: 33304535
30 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh37 Chromosome 6, 33272312: 33272312
31 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh38 Chromosome 6, 33305295: 33305295
32 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh37 Chromosome 6, 33273072: 33273072
33 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh38 Chromosome 6, 32829506: 32829506
34 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh37 Chromosome 6, 32797283: 32797283
35 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh37 Chromosome 6, 32800221: 32800221
36 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh38 Chromosome 6, 32832444: 32832444
37 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh37 Chromosome 6, 32800243: 32800244
38 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh38 Chromosome 6, 32832466: 32832467
39 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh38 Chromosome 6, 32832650: 32832650
40 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh37 Chromosome 6, 32800427: 32800427
41 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh38 Chromosome 6, 32838230: 32838230
42 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh37 Chromosome 6, 32806007: 32806007
43 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh38 Chromosome 6, 32847165: 32847165
44 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh37 Chromosome 6, 32814942: 32814942
45 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh38 Chromosome 6, 32848666: 32848666
46 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh37 Chromosome 6, 32816443: 32816443
47 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh37 Chromosome 6, 32816772: 32816772
48 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh38 Chromosome 6, 32848995: 32848995
49 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh38 Chromosome 6, 32849112: 32849112
50 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh37 Chromosome 6, 32816889: 32816889

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Pathways for Bare Lymphocyte Syndrome, Type I

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.5 LIMK1 RFXAP TAP2
2 phagocytic vesicle membrane GO:0030670 9.43 TAP1 TAP2 TAPBP
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.33 TAP1 TAP2 TAPBP
4 TAP complex GO:0042825 8.96 TAP1 TAP2
5 MHC class I peptide loading complex GO:0042824 8.8 TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.43 TAP1 TAP2 TAPBP
2 peptide transport GO:0015833 9.4 TAP1 TAP2
3 amide transport GO:0042886 9.37 TAP1 TAPBP
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.33 TAP1 TAP2 TAPBP
5 cytosol to ER transport GO:0046967 9.32 TAP1 TAP2
6 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.13 TAP1 TAP2 TAPBP
7 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 8.8 TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.46 TAP1 TAP2
2 peptide antigen binding GO:0042605 9.43 TAP1 TAPBP
3 MHC class I protein binding GO:0042288 9.4 TAP1 TAPBP
4 MHC protein binding GO:0042287 9.37 TAP1 TAP2
5 peptide transmembrane transporter activity GO:1904680 9.32 TAP1 TAP2
6 MHC class Ib protein binding GO:0023029 9.26 TAP1 TAP2
7 TAP2 binding GO:0046979 9.16 TAP1 TAPBP
8 TAP1 binding GO:0046978 9.13 TAP1 TAP2 TAPBP
9 peptide antigen-transporting ATPase activity GO:0015433 8.8 TAP1 TAP2 TAPBP

Sources for Bare Lymphocyte Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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